Mevalonic aciduria
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis.
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| MVK | 12 | PDB Entries |